ClinVar Miner

Submissions for variant NM_000085.5(CLCNKB):c.2055C>T (p.Ala685=)

dbSNP: rs6698427
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967908 SCV001115331 likely benign not provided 2024-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503045 SCV002811906 benign Bartter disease type 3; Bartter disease type 4B 2021-07-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000967908 SCV005256488 likely benign not provided criteria provided, single submitter not provided

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